Phenotype #0000125697

Individual ID 00152962
Associated disease CMS
Phenotype details 8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood
Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS)
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset ocular muscle weakness
Protein no AChR antibodies
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-02-13 11:22:31 +01:00 (CET)
Date last edited 2013-01-27 10:19:39 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.